Incidental Mutation 'R7062:Kcnj14'
ID548336
Institutional Source Beutler Lab
Gene Symbol Kcnj14
Ensembl Gene ENSMUSG00000058743
Gene Namepotassium inwardly-rectifying channel, subfamily J, member 14
SynonymsA930026G01Rik, Kir2.4, IRK4
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7062 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location45816460-45824782 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45817890 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 344 (Y344C)
Ref Sequence ENSEMBL: ENSMUSP00000071829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056820] [ENSMUST00000071937] [ENSMUST00000107729] [ENSMUST00000209245] [ENSMUST00000210137] [ENSMUST00000210232] [ENSMUST00000210853] [ENSMUST00000210898] [ENSMUST00000211263] [ENSMUST00000211783]
Predicted Effect probably benign
Transcript: ENSMUST00000056820
SMART Domains Protein: ENSMUSP00000051423
Gene: ENSMUSG00000003269

DomainStartEndE-ValueType
Sec7 58 243 1.03e-102 SMART
PH 260 378 3.07e-23 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000071937
AA Change: Y344C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071829
Gene: ENSMUSG00000058743
AA Change: Y344C

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:IRK 51 377 1.1e-146 PFAM
low complexity region 399 405 N/A INTRINSIC
low complexity region 418 434 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107729
SMART Domains Protein: ENSMUSP00000103357
Gene: ENSMUSG00000003269

DomainStartEndE-ValueType
Sec7 58 243 1.03e-102 SMART
PH 260 377 1.16e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209245
Predicted Effect probably benign
Transcript: ENSMUST00000210137
Predicted Effect probably benign
Transcript: ENSMUST00000210232
Predicted Effect probably benign
Transcript: ENSMUST00000210853
Predicted Effect probably benign
Transcript: ENSMUST00000210898
Predicted Effect probably benign
Transcript: ENSMUST00000211263
Predicted Effect probably benign
Transcript: ENSMUST00000211783
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (86/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel, and probably has a role in controlling the excitability of motor neurons. [provided by RefSeq, Feb 2013]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,599,146 D1370V probably damaging Het
Ackr1 A T 1: 173,332,115 I279N possibly damaging Het
Adcy10 A G 1: 165,538,522 H536R probably benign Het
Adgrb3 T C 1: 25,826,085 T226A possibly damaging Het
Apol10b T A 15: 77,585,273 M235L probably benign Het
Arhgap44 T C 11: 65,011,932 T570A probably benign Het
Astn1 A G 1: 158,688,511 probably null Het
Camsap3 A G 8: 3,607,834 probably benign Het
Ccdc73 C T 2: 104,951,878 A193V probably damaging Het
Ccl20 G A 1: 83,117,814 C32Y probably damaging Het
Cdk11b A G 4: 155,626,811 E16G probably damaging Het
Celsr2 T A 3: 108,402,510 N1591I possibly damaging Het
Col5a2 T C 1: 45,417,625 E306G probably benign Het
Cpa1 C T 6: 30,640,677 A106V probably benign Het
Ctdspl G A 9: 119,037,470 R199H probably damaging Het
Cyfip2 G A 11: 46,260,832 P547S probably damaging Het
Cyp2c37 A T 19: 39,995,546 probably null Het
Dnajc16 A G 4: 141,766,690 F549L probably damaging Het
Dnm3 T A 1: 162,134,491 K50* probably null Het
Eci1 C T 17: 24,426,740 probably benign Het
Eif2b4 C T 5: 31,192,831 C49Y probably benign Het
Emc3 A T 6: 113,522,796 I56N probably damaging Het
Enthd1 A G 15: 80,452,544 L563P probably damaging Het
Ercc4 T A 16: 13,132,947 I635K probably damaging Het
Espl1 A C 15: 102,298,896 N265T probably benign Het
Fads2 T C 19: 10,065,598 probably null Het
Fam186a G A 15: 99,933,640 probably benign Het
Fastkd1 A T 2: 69,704,322 I368K possibly damaging Het
Fat1 G A 8: 44,950,216 M1I probably null Het
Foxj1 T C 11: 116,331,993 E328G probably benign Het
Gfod2 T C 8: 105,722,876 probably benign Het
Gm6525 C T 3: 84,174,891 R40C probably benign Het
Gna12 G A 5: 140,785,485 T144I probably benign Het
Ighv9-3 T C 12: 114,141,092 M11V probably benign Het
Lrrc63 A T 14: 75,086,297 S496T probably benign Het
Ltn1 T C 16: 87,427,603 T78A probably damaging Het
Matr3 T A 18: 35,579,019 probably null Het
Mcpt4 A G 14: 56,060,668 M142T probably benign Het
Mroh7 A G 4: 106,683,980 F1154S probably damaging Het
Mrpl1 G T 5: 96,213,791 L12F probably benign Het
Myo3b G A 2: 70,217,157 V308I probably benign Het
Nfasc A G 1: 132,601,969 probably null Het
Npc1l1 T A 11: 6,217,807 M995L probably benign Het
Nvl A G 1: 181,112,334 I617T probably benign Het
Oas1h C A 5: 120,861,465 probably benign Het
Oasl2 T A 5: 114,911,091 Y197* probably null Het
Olfr1156 T C 2: 87,950,224 E3G probably benign Het
Olfr262 T C 19: 12,240,725 N312S probably benign Het
Olfr495 C T 7: 108,395,830 R237* probably null Het
Olfr598 T C 7: 103,329,086 V200A probably benign Het
Olfr728 A G 14: 50,140,450 L63P probably damaging Het
Olfr955 A T 9: 39,470,057 I223N probably benign Het
Orc6 T C 8: 85,302,908 V27A probably damaging Het
Parp4 A T 14: 56,614,759 R799S possibly damaging Het
Pcdhga1 C A 18: 37,825,077 S826R probably damaging Het
Phldb1 T C 9: 44,696,135 R1258G probably damaging Het
Ppfia1 T C 7: 144,552,473 S21G probably benign Het
Ppp1r18 C A 17: 35,868,211 T326K probably damaging Het
Psg26 A G 7: 18,482,596 L106P probably damaging Het
Rabgap1l A T 1: 160,226,650 D265E probably benign Het
Rasgrp4 T C 7: 29,150,194 L554P possibly damaging Het
Rnf17 G T 14: 56,465,654 V621L probably benign Het
Sart3 T C 5: 113,745,602 K783R possibly damaging Het
Slc23a2 T A 2: 132,091,269 I90F probably damaging Het
Slc5a2 A T 7: 128,270,040 M331L probably damaging Het
Slc5a7 C G 17: 54,293,001 G128A probably damaging Het
Smcr8 A T 11: 60,780,354 Q776L probably damaging Het
Smpd4 T A 16: 17,640,971 D519E probably damaging Het
Smurf1 A T 5: 144,893,546 probably null Het
Spata18 T A 5: 73,659,293 N125K probably benign Het
Spice1 T A 16: 44,357,896 M94K probably damaging Het
Stard4 T C 18: 33,205,534 probably null Het
Stx17 A G 4: 48,140,442 D49G probably benign Het
Tbce T C 13: 14,019,795 D93G possibly damaging Het
Tbx21 T A 11: 97,098,893 D491V probably damaging Het
Tmbim4 G T 10: 120,208,826 probably benign Het
Tmem209 C T 6: 30,502,017 R62H probably damaging Het
Tmem237 A T 1: 59,119,612 probably null Het
Tmprss9 T C 10: 80,895,049 I803T probably benign Het
Trip4 C T 9: 65,885,010 A7T probably benign Het
Unc13a T C 8: 71,663,237 D107G probably benign Het
Uso1 C A 5: 92,192,740 Q672K possibly damaging Het
Washc2 T A 6: 116,219,988 N239K possibly damaging Het
Zfp661 A G 2: 127,577,120 C367R probably damaging Het
Znrf3 T A 11: 5,281,550 E558D probably damaging Het
Other mutations in Kcnj14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2241:Kcnj14 UTSW 7 45819901 missense probably benign 0.03
R6122:Kcnj14 UTSW 7 45819451 missense possibly damaging 0.83
R6165:Kcnj14 UTSW 7 45820000 missense possibly damaging 0.95
R6228:Kcnj14 UTSW 7 45819497 missense probably damaging 0.99
R6251:Kcnj14 UTSW 7 45818016 missense probably damaging 1.00
R7833:Kcnj14 UTSW 7 45817893 missense probably damaging 1.00
R8739:Kcnj14 UTSW 7 45819388 missense probably damaging 1.00
Z1177:Kcnj14 UTSW 7 45819909 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCTGAAGTCCCCTCCTTAGTG -3'
(R):5'- CTCTGCCAGTCCACTGTATG -3'

Sequencing Primer
(F):5'- GAAGTCCCCTCCTTAGTGTCCTC -3'
(R):5'- TGCCAGTCCACTGTATGAGCTG -3'
Posted On2019-05-13